Whole exome sequencing reveals novel COL4A3 and COL4A4mutations and resolves diagnosis in Chinese families with kidney disease
Open Access
- 7 November 2014
- journal article
- research article
- Published by Springer Nature in BMC Nephrology
- Vol. 15 (1) , 1-8
Abstract
No abstract availableKeywords
This publication has 29 references indexed in Scilit:
- Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or ProteinuriaPLOS ONE, 2013
- DNA variant databases improve test accuracy and phenotype prediction in Alport syndromePediatric Nephrology, 2013
- Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosisOrphanet Journal of Rare Diseases, 2012
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing dataNucleic Acids Research, 2010
- Molecular testing for adult type Alport syndromeBMC Nephrology, 2009
- X-inactivation modifies disease severity in female carriers of murine X-linked Alport syndromeNephrology Dialysis Transplantation, 2009
- The Sequence Alignment/Map format and SAMtoolsBioinformatics, 2009
- The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathyPediatric Nephrology, 2008
- Mutations in the COL4A4 gene in thin basement membrane diseaseKidney International, 2003
- Identification of Four Novel Mutations in the COL4A5 Gene of Patients with Alport SyndromeGenomics, 1993